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Smith-Lemli-Opitz syndrome
Summary
- Synonym
-
- Rutledge lethal multiple congenital anomaly syndrome
- Smith-Opitz-Inborn syndrome
- Super Class
- lipid metabolism disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P37268 | Squalene synthase | |
| Q9UBM7 | 7-dehydrocholesterol reductase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006101 | Finger syndactyly |
| HP:0006288 | Advanced eruption of teeth |
| HP:0006482 | Abnormal dental morphology |
| HP:0006501 | Aplasia/Hypoplasia of the radius |
| HP:0006610 | Wide intermamillary distance |
| HP:0006695 | Atrioventricular canal defect |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0007477 | Abnormal dermatoglyphics |
